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Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

BACKGROUND: The bladder exstrophy‐epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought to play an essential role. The recurrent 22q11.2 microduplic...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Lundin, Johanna, Markljung, Ellen, Baranowska Körberg, Izabella, Hofmeister, Wolfgang, Cao, Jia, Nilsson, Daniel, Holmdahl, Gundela, Barker, Gillian, Anderberg, Magnus, Vukojević, Vladana, Lindstrand, Anna, Nordenskjöld, Agneta
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565582/
https://ncbi.nlm.nih.gov/pubmed/31044557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.666
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